Tibial Aplasia-Ectrodactyly in a Nonautosomal Dominant Expression: Implications in Prenatal Sonology Diagnosis

Tibial aplasia-ectrodactyly (TAE) is a syndrome of severe defects of the extremities. Because of its rare occurrence, its inheritance pathway is not clearly understood. The most widely accepted theory is a dominant expression, possibly with reduced penetrance in skipped generations. The case study presented raises the possibility of a recessive mode of inheritance, thus reducing the predictability of its occurrence in a family pedigree. For the physician and sonographer, this illustrates the importance of an understanding of this anomaly and thorough prenatal sonographic evaluation even in unsuspecting families. While the expectation of its occurrence is remote, early diagnosis when it is present expands the management options for the physician and family.